Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171410473_171410474insAC , CM000667.2:g.171410473_171410474insAC	GRCh38
NC_000005.9:g.170837477_170837478insAC , CM000667.1:g.170837477_170837478insAC	GRCh37
NC_000005.8:g.170770082_170770083insAC	NCBI36
NG_016018.1:g.27770_27771insAC , LRG_458:g.27770_27771insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296930.10:c.847-54_847-53insAC MANE Select	ENSP00000296930.5:n.847-54_847-53insAC
ENST00000518587.2:n.1041-54_1041-53insAC
ENST00000521260.2:n.1225-54_1225-53insAC
ENST00000521672.6:c.655-54_655-53insAC	ENSP00000429485.2:n.655-54_655-53insAC
ENST00000676504.1:n.1593-54_1593-53insAC
ENST00000676589.1:c.934-54_934-53insAC	ENSP00000503283.1:n.934-54_934-53insAC
ENST00000676613.1:c.1594-54_1594-53insAC	ENSP00000503767.1:n.1594-54_1594-53insAC
ENST00000676625.1:n.3264-54_3264-53insAC
ENST00000677297.1:c.334-54_334-53insAC	ENSP00000504016.1:n.334-54_334-53insAC
ENST00000677325.1:c.655-54_655-53insAC	ENSP00000503781.1:n.655-54_655-53insAC
ENST00000677357.1:c.880-54_880-53insAC	ENSP00000504740.1:n.880-54_880-53insAC
ENST00000677467.1:n.2272-54_2272-53insAC
ENST00000677600.1:n.2165-54_2165-53insAC
ENST00000677672.1:n.2270-54_2270-53insAC
ENST00000677682.1:n.2177-54_2177-53insAC
ENST00000677741.1:n.2113-54_2113-53insAC
ENST00000677904.1:n.1123-54_1123-53insAC
ENST00000677907.1:c.568-54_568-53insAC	ENSP00000504308.1:n.568-54_568-53insAC
ENST00000678186.1:n.2317-54_2317-53insAC
ENST00000678267.1:c.1948-54_1948-53insAC	ENSP00000504107.1:n.1948-54_1948-53insAC
ENST00000678280.1:c.832-54_832-53insAC	ENSP00000503235.1:n.832-54_832-53insAC
ENST00000678774.1:c.323-54_323-53insAC	ENSP00000503150.1:n.323-54_323-53insAC
ENST00000679190.1:c.30-54_30-53insAC	ENSP00000503408.1:n.30-54_30-53insAC
ENST00000296930.9:c.847-54_847-53insAC	ENSP00000296930.5:n.847-54_847-53insAC
ENST00000351986.10:c.760-54_760-53insAC	ENSP00000341168.6:n.760-54_760-53insAC
ENST00000517671.5:c.847-54_847-53insAC	ENSP00000428755.1:n.847-54_847-53insAC
ENST00000524204.1:n.283-54_283-53insAC
NM_002520.6:c.847-54_847-53insAC , LRG_458t1:c.847-54_847-53insAC	NP_002511.1:n.847-54_847-53insAC
NM_199185.3:c.760-54_760-53insAC	NP_954654.1:n.760-54_760-53insAC
XM_011534564.1:c.655-54_655-53insAC	XP_011532866.1:n.655-54_655-53insAC
NM_001355006.1:c.847-54_847-53insAC	NP_001341935.1:n.847-54_847-53insAC
NM_001355007.1:c.655-54_655-53insAC	NP_001341936.1:n.655-54_655-53insAC
NM_001355010.1:c.466-54_466-53insAC	NP_001341939.1:n.466-54_466-53insAC
NR_149149.1:n.964-54_964-53insAC
NM_001355006.2:c.847-54_847-53insAC	NP_001341935.1:n.847-54_847-53insAC
NM_001355007.2:c.655-54_655-53insAC	NP_001341936.1:n.655-54_655-53insAC
NM_001355010.2:c.466-54_466-53insAC	NP_001341939.1:n.466-54_466-53insAC
NM_002520.7:c.847-54_847-53insAC MANE Select	NP_002511.1:n.847-54_847-53insAC
NM_199185.4:c.760-54_760-53insAC	NP_954654.1:n.760-54_760-53insAC
NR_149149.2:n.819-54_819-53insAC